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[Enzyme replacement therapy for hypophosphatasia]

Keiichi Ozono1

  • 1Department of Pediatrics, Osaka University Graduate School of Medicine, Japan.

Clinical Calcium
|January 30, 2014
PubMed

Insights

Enzyme replacement therapy using bone-targeting recombinant alkaline phosphatase (ALP) shows promise for treating hypophosphatasia, a condition causing impaired bone calcification. Clinical trials indicate efficacy and safety, with expanded trials ongoing.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Context:

  • Hypophosphatasia (HPP) is a rare genetic disorder.
  • It results from mutations in the gene encoding tissue-nonspecific alkaline phosphatase (ALP).
  • This leads to impaired bone mineralization and severe health complications, particularly in infants.

Purpose:

  • To evaluate the efficacy and safety of enzyme replacement therapy (ERT) for hypophosphatasia.
  • To investigate the use of a bone-targeting recombinant ALP in treating HPP.
  • To assess the therapeutic potential of ERT in preclinical models and clinical trials.

Summary:

  • Abnormal tissue-nonspecific alkaline phosphatase (ALP) causes hypophosphatasia, leading to impaired bone calcification and high infant mortality.
  • A novel bone-targeting recombinant ALP has been developed for enzyme replacement therapy (ERT).
  • ERT demonstrated efficacy in hypophosphatasia model mice and has shown positive results in clinical trials for perinatal and infantile HPP.

Impact:

  • ERT offers a potential therapeutic strategy for hypophosphatasia, addressing a critical unmet medical need.
  • Successful clinical trials could lead to an approved treatment for severe forms of HPP.
  • Ongoing expanded trials aim to further establish the long-term safety and efficacy of this innovative therapy.

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